Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference29 articles.
1. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function;Reiser;Nat Genet.,2005
2. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis;Winn;Science.,2005
3. A novel TRPC6 mutation that causes childhood FSGS;Heeringa;PLoS ONE.,2009
4. Familial collapsing focal segmental glomerulosclerosis;Liakopoulos;Clin Nephrol.,2011
5. Case Report: making a diagnosis of familial renal disease - clinical and patient perspectives;Iqbal;F1000Res.,2017
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